| Abstract (english) | Spinal muscular atrophy (SMA) is autosomal recessive disorder
characterized by degeneration of spinal cord motor neurons,
atrophy of skeletal muscles and generalised weakness. With incidence estimated
between 1/6000 and 1/11000, it is the leading genetic cause of infant mortality.
Disease is caused by deleterious mutations of SMNl gene, and subsequently
decreased levels of SMN protein. Based on the age at onset of symptoms and
achieved motor milestone, patients are classified into one of five phenotypic classes
(SMA O, SMA I, SMA II, SMA III, SMA IV). Cornerstone of modem diagnosis
is genetic screening for homozygous deletion or mutation of the SMNl
gene. Until recently, SMA therapy was mainly supportive and despite huge
advances in medical technology and patient care, natural history of the disease
was barely affected. Twenty years after the discovery of the SMNl gene and its
role in SMA, a major step forward was made by approving the first drug for
SMA, antisense oligonucleotide, nusinersen. However, despite great enthusiasm
within SMA community, following approval, nusinersen has at the same time
created many ethical, medical and financial challenges. Many of which are also
reflected upon the recently approved gene therapy for SMA. |
